Novel genetic predictors of venous thromboembolism risk in African Americans

摘要: Venous thromboembolism (VTE) is the third most common life-threatening cardiovascular condition in United States, with African Americans (AAs) having a 30% to 60% higher incidence compared other ethnicities. The mechanisms underlying population differences risk of VTE are poorly understood. We conducted first genome-wide association study AAs, comprising 578 subjects, followed by replication highly significant findings an independent cohort 159 AA subjects. Logistic regression was used estimate between genetic variants and risk. Through bioinformatics analysis top signals, we identified expression quantitative trait loci (eQTLs) whole blood investigated messenger RNA cases controls. replicated single-nucleotide polymorphisms on chromosome 20 (rs2144940, rs2567617, rs1998081) that increased 2.3-fold (P 20%) ethnic groups (<10%). demonstrate SNPs cis-eQTLs for thrombomodulin (THBD), THBD lower among controls (P= 9.87 × 10(-6)). have novel associated AAs. These predominantly found populations descent gene expression. Our provide new molecular insight into mechanism regulating susceptibility identify increase disproportionately affected this disease.